(Q36950461)

17 August 2017

Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family (English)

1 reference

17 August 2017

Shirong Zhang

1

1 reference

17 August 2017

Mugen Liu

2

1 reference

17 August 2017

Jia Mei Dong

3

1 reference

17 August 2017

Ke Yin

4

1 reference

17 August 2017

Pengyun Wang

5

1 reference

17 August 2017

Juan Bu

6

1 reference

17 August 2017

Jing Li

7

1 reference

17 August 2017

Yan Sheng Hao

8

1 reference

17 August 2017

Ping Hao

9

1 reference

17 August 2017

Qing Kenneth Wang

10

1 reference

17 August 2017

Lejin Wang

11

1 reference

17 August 2017

22 October 2008

1 reference

17 August 2017

1 reference

17 August 2017

14

1 reference

17 August 2017

1893-1897

1 reference

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Genetic origins of cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Novel HSF4 mutation causes congenital total white cataract in a Chinese family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

A locus for isolated cataract on human Xp.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Clinical and genetic heterogeneity in autosomal dominant cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Aetiology of congenital and paediatric cataract in an Australian population

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2573730

Infantile cataract in the collaborative perinatal project: prevalence and risk factors

4 September 2018

1 reference

12 December 2020

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)

1 reference

12 December 2020

Genetic and segregation analysis of congenital cataract in the Indian population

1 reference

12 December 2020

An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23

1 reference

12 December 2020

Identifiers

1 reference

17 August 2017

1 reference